GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Garavaglia, B; Invernizzi, F; Carbone, M L Agostoni; Viscardi, V; Saracino, F; Ghezzi, D; Zeviani, M; Zorzi, G; Nardocci, N

Garavaglia, B; Invernizzi, F; Carbone, M L Agostoni; Viscardi, V; Saracino, F; Ghezzi, D; Zeviani, M; Zorzi, G; Nardocci, N.

Affiliation

Garavaglia B; Unità Operativa di Neurogenetica Molecolare, Istituto Nazionale Neurologico-IRCCS Carlo Besta, via L. Temolo 4, 20126 Milano, Italy. garavaglia@istituto-besta.it

J Inherit Metab Dis ; 27(4): 455-63, 2004.

Article in En | MEDLINE | ID: mdl-15303002

Subject(s)

GTP Cyclohydrolase/deficiency; GTP Cyclohydrolase/genetics; Mutation; Adult; Female; Frameshift Mutation; Humans; Male; Mutagenesis, Site-Directed; Mutation, Missense; Polymerase Chain Reaction; Saccharomyces cerevisiae/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: GTP Cyclohydrolase / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2004 Document type: Article Affiliation country: Italy Country of publication: United States

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